A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5958392



Internal ID22717510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75237848..75237848hg38UCSC Ensembl
chr1:75703533..75703533hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380574
Samples
Known GenesSLC44A5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5958392
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer